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Prepublished online as a Blood First Edition Paper on April 17, 2002; DOI 10.1182/blood-2002-01-0203. This Article Full Text (PDF) All Versions of this Article: 2002-01-0203v1 100/2/661    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Yavuz, A. S. Articles by Akin, C. Search for Related Content PubMed PubMed Citation Articles by Yavuz, A. S. Articles by Akin, C. Social Bookmarking                   What's this? Submitted January 24, 2002 Accepted March 16, 2002 Evidence for the involvement of an hematopoietic progenitor cell in systemic mastocytosis from single cell analysis of mutations in the C-KIT gene A. Selim Yavuz, Peter E Lipsky, Sule Yavuz, Dean D Metcalfe, and Cem Akin* Autoimmunity Branch, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, USA Laboratory of Allergic Diseases, National Institutes of Health, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA * Corresponding author; email: cakin{at}niaid.nih.gov. Mast cells are derived from multipotential hematopoietic progenitors and are clonally increased in systemic mastocytosis, a disease associated with point mutations of codon 816 (most commonly Asp816Val) of c-kit. In order to study the lineage relationship and the extent of expansion of cells derived from the mutated clone, we examined the occurrence of the Asp816Val c-kit mutation in genomic DNA of individual sorted peripheral blood T cells, B cells and monocytes in patients with indolent systemic mastocytosis. The mutation was detected in varying frequencies in the genomic DNA of individual B cells and monocytes and bone marrow mast cells in patients with extensive disease. In B cells, the immunoglobulin repertoire was polyclonal, indicating that the mutation occurred before VHDHJH recombination. These results show that mastocytosis is a disorder of a pluripotential hematopoietic progenitor cell which gives rise to B cells and monocytes in addition to mast cells and that the affected clone shows variable expansion in these lineages in the peripheral blood of patients with systemic mastocytosis. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: A. Pardanani, K.-H. Lim, T. L. Lasho, C. Finke, R. F. McClure, C.-Y. Li, and A. Tefferi Prognostically relevant breakdown of 123 patients with systemic mastocytosis associated with other myeloid malignancies Blood, October 29, 2009; 114(18): 3769 - 3772. 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Horny Systemic Mastocytosis Associated with Chronic Idiopathic Myelofibrosis: A Distinct Subtype of Systemic Mastocytosis-Associated Clonal Hematological Nonmast Cell Lineage Disorder Carrying the Activating Point Mutations KITD816V and JAK2V617F J. Mol. Diagn., January 1, 2008; 10(1): 58 - 66. [Abstract] [Full Text] [PDF] K. J. Aichberger, M. Mayerhofer, K. V. Gleixner, M.-T. Krauth, A. Gruze, W. F. Pickl, V. Wacheck, E. Selzer, L. Mullauer, H. Agis, et al. Identification of MCL1 as a novel target in neoplastic mast cells in systemic mastocytosis: inhibition of mast cell survival by MCL1 antisense oligonucleotides and synergism with PKC412 Blood, April 1, 2007; 109(7): 3031 - 3041. [Abstract] [Full Text] [PDF] D. P. Steensma and R. E. Richard Myeloproliferative disorders ASH Self-Assessment Program, January 1, 2007; 2007(1): 172 - 227. [Full Text] [PDF] A. Tan, D. Westerman, G. A. McArthur, K. Lynch, P. Waring, and A. 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Besmer Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase PNAS, May 27, 2003; 100(11): 6706 - 6711. [Abstract] [Full Text] [PDF]

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